Open AccessDevelopmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC 2 gene mutation
Author(s) -
Zipper Rachelle,
Baine Sherri D.,
Genizi Jacob,
Maoz Hen,
Levy Nina S.,
Levy Andrew P.
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1139
Subject(s) - autism , medicine , intellectual disability , epilepsy , mutation , pediatrics , psychiatry , infantile autism , developmental disorder , gene , genetics , biology
Key Clinical Message The neurodevelopmental progression of a school‐aged child with a spontaneous IQSEC 2 mutation has demonstrated apparent regression of milestones and language. Seizures associated with the disorder have been refractory to medical treatment. Late treatment of autism in this child has led to improved social skills.